3-Beta-Hydroxysteroid Dehydrogenase Deficiency

Common Name(s)

3-Beta-Hydroxysteroid Dehydrogenase Deficiency

3-beta (β)-hydroxysteroid dehydrogenase (HSD) deficiency is an inherited disorder that affects both men and women. It is characterized by abnormalities in the gonad (ovaries in females and testes in males) and adrenal (regulate hormones and control salt levels in the body) glands. 3β-HSD deficiency impairs hormone production and interferes with sexual development. There are three types of 3β-HSD deficiency: non-salt wasting, salt-wasting, and non-classic. In salt-wasting you loose large amounts of salt through urine. This type is usually diagnosed right after birth. Symptoms include: dehydration, vomiting, and poor feeding. If you have the non-salt wasting type you will be able to produce enough hormones to reabsorb salt. The non-classic type does not include salt-wasting, and has the mildest symptoms. Males with 3β-HSD deficiency often have abnormal external genitalia and cannot have biological children. Females with 3β-HSD deficiency usually have slight abnormalities in external genitalia, and if they do not have the salt-wasting type, are not diagnosed until puberty when they have symptoms including: irregular menstruation, premature pubic hair growth, and excessive body hair growth. Females with 3β-HSD deficiency are usually infertile. Treatment for this condition may include medication to replace certain hormones (glucocorticoids, mineralocorticoids, and sex steroids).

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "3-Beta-Hydroxysteroid Dehydrogenase Deficiency" returned 3 free, full-text research articles on human participants.
First 3 results:

Late-onset congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency has been reported with increasing frequency, but only a few adult women have been found to have this disorder in Japan. We report a 26-year-old Japanese hirsute woman with partial 3 beta-hydroxysteroid ...

The patient was admitted to our hospital at 19 and again at 22-yr of age for hirsutism and hypertension. Her baseline and ACTH-stimulated plasma 17-hydroxy pregnenolone, dehydroepiandrosterone and dehydroepiandrosterone sulfate were increased whereas plasma 17-hydroxy progesterone ...

Reviews from the PubMed Database

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The terms "3-Beta-Hydroxysteroid Dehydrogenase Deficiency" returned 0 free, full-text review articles on human participants.

No free, full-text review articles on human participants are available at this time.
Please click this link to visit the PubMed website for results on "3-Beta-Hydroxysteroid Dehydrogenase Deficiency".

According to ClinicalTrials.gov there are currently 0 additional "open" studies for "3-Beta-Hydroxysteroid Dehydrogenase Deficiency" (open studies are recruiting volunteers) and 0 "3-Beta-Hydroxysteroid Dehydrogenase Deficiency" studies with "all" status. Visit ClinicalTrials.gov now to view them. Or alternatively, consider TrialsFinder for assistance:

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Finding the right clinical trial for 3-Beta-Hydroxysteroid Dehydrogenase Deficiency can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity.